//
sign in
Profile
by @danabra.mov
Profile
by @dansshadow.bsky.social
Profile
by @jimpick.com
AviHandle
by @danabra.mov
AviHandle
by @dansshadow.bsky.social
AviHandle
by @katherine.computer
EventsList
by @katherine.computer
ProfileHeader
by @dansshadow.bsky.social
ProfileHeader
by @danabra.mov
ProfileMedia
by @danabra.mov
ProfilePlays
by @danabra.mov
ProfilePosts
by @danabra.mov
ProfilePosts
by @dansshadow.bsky.social
ProfileReplies
by @danabra.mov
Record
by @atsui.org
Skircle
by @danabra.mov
StreamPlacePlaylist
by @katherine.computer
+ new component
Profile
Loading...
Loading...
I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social
10mo
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Know a super awesome postdoc who wants to come and work in a gorgeous city full of exciting science and wonderful people? We are recruiting! 💻 🧬🏴󠁧󠁢󠁳󠁣󠁴󠁿 elxw.fa.em3.oraclecloud.com/hcmUI/Candid...
3mo
Alex Geary
We are seeking a highly motivated Postdoctoral Research Associate in Computational Genomics to join our team at the University of Edinburgh. This is a unique opportunity to work on a cutting-edge proj...
elxw.fa.em3.oraclecloud.com
Post-Doctoral Research Associate in Computational Genomics